Oberbauer A M, Grossman D I, Irion D N, Schaffer A L, Eggleston M L, Famula T R
Department of Animal Science, University of California, Davis, California 95616, USA.
J Hered. 2003 Jan-Feb;94(1):57-63. doi: 10.1093/jhered/esg010.
Idiopathic epilepsy is characterized by recurrent seizure activity without an identifiable underlying anatomic defect. Dogs experiencing repeated bouts of severe seizures are given therapeutic medication to control their frequency and severity. Idiopathic epilepsy has been reported in many dog breeds and was identified as the predominant health issue facing dog breeds in a recent survey by the American Kennel Club. A growing body of evidence supports a hereditary basis for idiopathic epilepsy, with a variety of genetic inheritance models proposed. In the Belgian tervuren and sheepdog, epilepsy is highly heritable with a polygenic mode of inheritance, though apparently influenced by a single autosomal recessive locus of large effect. In an effort to establish molecular linkage between the epileptic phenotype and the locus of large effect, we have screened genomic DNA from families of affected tervuren and sheepdogs with 100 widely dispersed, polymorphic canine microsatellite markers (0.595 average PIC value). Although not significant (LOD scores <3.0), three genomic regions have shown nominal linkage between markers and the epileptic phenotype. Additional related dogs are being screened with these and additional markers to increase the power to detect the presence of a linked locus.
特发性癫痫的特征是反复出现癫痫发作活动,且无明显的潜在解剖学缺陷。经历反复严重癫痫发作的犬只接受治疗性药物以控制发作频率和严重程度。许多犬种都有特发性癫痫的报道,美国养犬俱乐部最近的一项调查将其确定为犬种面临的主要健康问题。越来越多的证据支持特发性癫痫的遗传基础,并提出了多种遗传遗传模型。在比利时坦比连犬和比利时牧羊犬中,癫痫具有高度遗传性,呈多基因遗传模式,尽管显然受一个具有较大效应的常染色体隐性位点影响。为了在癫痫表型和具有较大效应的位点之间建立分子连锁关系,我们用100个广泛分布的多态性犬微卫星标记(平均PIC值为0.595)对受影响的坦比连犬和比利时牧羊犬家族的基因组DNA进行了筛选。虽然不显著(LOD分数<3.0),但三个基因组区域已显示出标记与癫痫表型之间的名义连锁。正在用这些标记和其他标记对更多相关犬只进行筛选,以提高检测连锁位点存在的能力。